AutismKB 2.0

Annotation Detail for RBBP5


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Basic Information Top
Gene Symbol:RBBP5 ( RBQ3,SWD1 )
Gene Full Name: retinoblastoma binding protein 5
Band: 1q32.1
Quick LinksEntrez ID:5929; OMIM: 600697; Uniprot ID:RBBP5_HUMAN; ENSEMBL ID: ENSG00000117222; HGNC ID: 9888
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body3 / 7076142
blastocyst1 / 6231916
fetus15 / 56401226
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult32 / 193912116
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow1 / 4880120
brain34 / 110098930
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine2 / 2344728
kidney10 / 21177747
larynx0 / 241450 
liver3 / 20774314
lung4 / 33697411
lymph2 / 4427045
lymph node9 / 9161098
mammary gland3 / 15327119
mouth4 / 6705259
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis10 / 33044230
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus6 / 23287825
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205169_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.85
Adipocyte6.55
AdrenalCortex7.25
Adrenalgland5.55
Amygdala7.1
Appendix7.5
AtrioventricularNode5.6
BDCA4+_DentriticCells7.5
Bonemarrow6.5
BronchialEpithelialCells6
CD105+_Endothelial6.7
CD14+_Monocytes15.25
CD19+_BCells(neg._sel.)7.35
CD33+_Myeloid11.4
CD34+10.3
CD4+_Tcells7.35
CD56+_NKCells8.45
CD71+_EarlyErythroid6.2
CD8+_Tcells6.9
CardiacMyocytes10
Caudatenucleus5.7
Cerebellum5.15
CerebellumPeduncles7.45
CiliaryGanglion5.05
CingulateCortex6.7
Colorectaladenocarcinoma6.65
DorsalRootGanglion5
FetalThyroid6.45
Fetalbrain6.4
Fetalliver5.7
Fetallung5.1
GlobusPallidus4.8
Heart8.8
Hypothalamus6.5
Kidney5.3
Leukemia_chronicMyelogenousK-5629.5
Leukemia_promyelocytic-HL-605.7
Leukemialymphoblastic(MOLT-4)7.1
Liver8.75
Lung7.1
Lymphnode5.75
Lymphoma_burkitts(Daudi)8.45
Lymphoma_burkitts(Raji)9.8
MedullaOblongata5.7
OccipitalLobe5.8
OlfactoryBulb5.25
Ovary4.4
Pancreas5.3
PancreaticIslet7.05
ParietalLobe6.95
Pituitary7.5
Placenta6.1
Pons6.25
PrefrontalCortex8.4
Prostate7.8
Salivarygland5.2
SkeletalMuscle8.2
Skin5.6
SmoothMuscle7.2
Spinalcord6.8
SubthalamicNucleus6.05
SuperiorCervicalGanglion8.3
TemporalLobe6.35
Testis5.4
TestisGermCell5.35
TestisIntersitial5.4
TestisLeydigCell6.55
TestisSeminiferousTubule5.6
Thalamus6.6
Thymus6.45
Thyroid8.4
Tongue6.65
Tonsil7.7
Trachea5.6
TrigeminalGanglion6.9
Uterus5.25
UterusCorpus6.05
WholeBlood8.9
Wholebrain5.65
colon6.3
pineal_day8.28
pineal_night13.54
retina8.05
small_intestine5.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P201887
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala5.81 ± 0.51
Basal Forebrain5.79 ± 0.09
Basal Part of Pons6 ± 0.38
Cerebellar Cortex5.63 ± 0.37
Cerebellar Nuclei5.97 ± 0.4
Claustrum6.27 ± 0.57
Epithalamus5.58 ± 0.35
Frontal Lobe5.75 ± 0.43
Globus Pallidus5.58 ± 0.4
Hypothalamus5.93 ± 0.26
Insula5.67 ± 0.33
Limbic Lobe6.06 ± 0.48
Mesencephalon5.75 ± 0.5
Myelencephalon5.81 ± 0.42
Occipital Lobe6.25 ± 0.37
Parietal Lobe6.01 ± 0.4
Pontine Tegmentum5.92 ± 0.47
Striatum6.19 ± 0.38
Subthalamus5.91 ± 0.1
Temporal Lobe5.83 ± 0.41
Thalamus5.78 ± 0.4
White Matter5.95 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rbbp5CBCerebellum17.03
21.33
Rbbp5CTXCerebral cortex16.28
11.39
Rbbp5HIPHippocampal region22.81
37.61
Rbbp5HPFHippocampal formation18.57
26.35
Rbbp5HYHypothalamus7.56
5.49
Rbbp5LSXLateral septal complex3.24
2.25
Rbbp5MBMidbrain12.09
10.88
Rbbp5MYMedulla24.84
26.43
Rbbp5OLFOlfactory bulb19.86
14.08
Rbbp5PPons16.24
17.18
Rbbp5PALPallidum5.73
4.7
Rbbp5RHPRetrohippocampal region9.14
7.56
Rbbp5sAMYStriatum-like amygdalar nuclei8.49
5.86
Rbbp5STRStriatum7.04
4.82
Rbbp5STRdStriatum dorsal region5.1
3.47
Rbbp5STRvStriatum ventral region13.61
8.73
Rbbp5THThalamus11.3
8.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00078606 11 180 190 TDSQDLVASFR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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